Nursing Times 2009

Final published version Nursing Times 24 November 2009 105 (46): 19-23 http://www.nursingtimes.net/

Understanding the role of genetics and genomics in health 2: implications for practice Professor Maggie Kirk PhD, BSc (Hons), RGN, Dip N. Lead Professional Specialist (Nursing) NHS National Genetics Education and Development Centre Faculty of Health, Sport and Science University of Glamorgan Glyntaf Campus Pontypridd CF37 1DL Tel: 01443 483074 [email protected] Emma Tonkin, PhD, BSc (Hons) Education Development Officer (Nursing Professions) NHS National Genetics Education and Development Centre, Faculty of Health, Sport and Science, University of Glamorgan Tel: 01443 483156 [email protected]


Abstract This second in a two-part article on genetics and genomics in healthcare focuses on the implications for nursing practice. It outlines the nursing role in supporting the patient pathway and some of the ethical issues and challenges facing nurses as they integrate genomic healthcare into their practice. Key words: Genomics; genomic healthcare; ethics; genetic education


2. Genomic healthcare applied to nursing practice: implications and issues Learning outcomes After reading this article you should be able to:  Identify where genomic healthcare can be applied to nursing practice.  Identify the potential implications for nurses of genomic healthcare INTRODUCTION The advances in genomic science that have continued in the wake of the completion of the Human Genome Project in 2003 are bringing a phenomenal increase in knowledge and understanding about the causes of genetically complex common disease such as asthma, diabetes, autism, bipolar disorder and schizophrenia (Department of Health 2008). This offers new opportunities to diagnose disease more accurately and to predict disease ahead of any clinical manifestation. In the latter case, identifying population groups who are at increased risk could help to target health promotion resources more effectively (Box 1). Applications to healthcare have already emerged and such developments “have enormous further potential in improving and rationalising management of a broad range of diseases, and in advancing strategies for disease prevention and public health” (House of Lords 2009, p22). Nurses need to be aware of the implications of these advances for their practice, education and for the profession. BOX 1: Identifying at risk groups for targeted treatment Specialist Nurse Lowrie talks about familial hypercholesterolaemia, a dominantly inherited condition associated with high morbidity and mortality from cardiovascular disease that affects around 1 in 500 people: … obviously it is a genetic condition but I think the fact that it is easily

identifiable and is easily treatable and can prevent premature cardiovascular disease is a big issue with this. You know for many genetic conditions the outcome is not so easily treatable and there are huge issues then in terms of having children and other lifestyle issues as well. But with this I think it’s generally positive because something can be done and treatment can be offered and you are not asking them to make huge choices.

(www.geneticseducation.nhs.uk/tellingstories : Lowrie)

THE CHALLENGE OF GENOMIC HEALTHCARE One implication for nurses is indicated in the review of the genetics White Paper, where the Department of Health reiterates that “over time the relevance of genetics across other medical specialties would become increasingly clear to clinicians and others outside the genetics specialty” (DOH 2008, p11). This is an important point because there has been limited awareness about specialist


genetics services amongst the nursing profession. Many nurses have little understanding of the relevance of genetics to nursing care, do not see it as important, and are not confident in applying genetics to their practice (Kirk et al. 2007). They are also unlikely to have had adequate education about genetics during their training (Kirk and Tonkin 2006). Tony’s story captures how this can impact on patient care (Box 2). BOX 2: Tony’s story Tony has sickle cell disease, a recessively-inherited condition caused by a mutation in the ß-haemoglobin gene that affects about 1 in every 300 people of African-Caribbean origin. About 125,000 people in the UK are estimated to have the condition. Tony recounts his experience of transitional care as a young adult admitted to acute wards during episodes of excruciatingly painful sickle cell crisis:

… When I moved over to the adult wards I found the staff had no knowledge of it at all really, hardly any of them. … I was in hospital and I just wanted to cry really. Because the ward they put me on, the staff didn’t know anything about it. Not a bit. He goes on to talk about one experience in relation to his inadequate pain management whilst he was on the ward and concludes:

… That’s one of the worst experiences I have ever had and to me the most frightening. Like I said, now I’m scared of going back into hospital. (www.geneticseducation.nhs.uk/tellingstories : Tony) The single gene disorders such as sickle cell disease and conditions caused by alterations to chromosome number or structure are relatively rare but collectively numerous. If Tony’s experience reflects the limited genetics knowledge and understanding many nurses have, integrating genomics into everyday practice will present an even greater challenge. Another factor in this is that although the UK government is investing in the specialist genetics services to build capacity in response to the already significant increase in demand, these services will be unable to cope with the anticipated scope and scale of development of genomic healthcare. New models of care are being developed involving nurses in primary, secondary and tertiary care working in collaboration with, but independently of, nurses and other healthcare professionals in the genetics specialism. Pilot programmes in cancer genetics for example, have already demonstrated some success (Department of Health 2008). More recently, a service development initiative involving cardiac nurses in cardiovascular genetics has begun. What this highlights is that nurses and other health professionals need to engage with genomic healthcare as new advances emerge with increasing frequency. In doing so, the challenge for nurses is to:  Know about, and understand how genomic science applies to their practice  Understand the implications for their profession and for wider society


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Manage the expectations and concerns of their patients Educate others (and themselves) Demonstrate leadership in communicating about, and responding to, developments in genetics/genomics and related technologies.

GENOMICS APPLIED TO PRACTICE Knowledge for practice The distinction between diseases and ill-health caused by ‘genetics’ (i.e. due to single gene and chromosome alterations) and those from all other causes is no longer a valid model to apply to practice (see Part 1). Rather, the contribution of genetic make-up and the environment, and their interaction, leads to a continuum of diseases that affect patients across all healthcare settings. Whilst the highly penetrant single gene conditions lie at one end of the spectrum, and those with a high degree of environmental causation (such as road traffic accidents) are at the other, what lies in between are the common complex conditions. These may involve interactions between several genes, the epigenome and the environment, each gene playing its own part in the overall susceptibility to that disease, and each conferring an added (or reduced) risk. Knowledge of the genotype may also play a part in clinical management and therapeutics. What this means is that the core genetics knowledge that nurses need must now broaden to encompass genomics, along with the skills to apply this in practice, along the patient pathway (Fig 1): Identifying patients who might benefit from referral to genetics services or information. This relies on the nurse having an awareness of where genetics is likely to be most relevant to his/her patient group. Skills in family history taking help identify people potentially at risk. Knowing how and where to refer patients for specialist advice follows on from this (Box 3). Ongoing nursing care Providing ongoing care and support is a fundamental role of the nurse. In this context this includes knowing or finding out about the condition, listening to the patient and family, helping them to understand the concept of risk, explaining prognosis, finding out about support groups and acting as a patient advocate. The psychosocial impact of genetic information or diagnosis on the individual and family may require longer term support from nurses involved in ongoing care. Feelings of guilt and blame, loss and bereavement are not uncommon and require sensitive, empathic nursing care. Communicating genetic information in a way patients/families can understand is crucial given the complexity of the field. Their understanding may be influenced by media reports, or their own beliefs about how conditions run in families. Whilst genetic counsellors are highly skilled at communicating genetic information, patients spend relatively little time with them compared with for example the community nurse. Sometimes patients may not even be referred to genetics services. The nursing role here is to inform and support decision-making about genetic testing, reproductive and lifestyle choices, and direct them to further information. Reflecting on practice is particularly important where new knowledge and skills are being acquired and applied to practice. Reflections helps maintain


awareness of the limitations of knowledge, and to be aware of the wider implications of genetic information for the patient, family and wider society. BOX 3: The Regional Genetics Centres There is a network of over 20 regional genetics centres across the UK (including 5 in London) that offer a range of diagnostic and genetic counselling services for people with, at risk of, or susceptible to, genetic conditions. Some offer specific expertise in a particular genetics speciality. Each serves a population of 3-5 million. Genetic counsellors (including genetic specialist nurses) play a vital role in service delivery. Contact information and details of services offered can be found at: http://www.bshg.org.uk/genetic_centres/uk_genetic_centres.htm

The first step in this is for nurses to build on ‘basic’ knowledge to learn about how genetics/genomics applies to patients or clients in their particular area of practice. Diabetes provides an example of this (Box 4). BOX 4: Genomics in practice: Diabetes At least 7 different genetic subtypes of diabetes have been described and Murphy et al. (2008) describe 4 single gene subtypes that account for 1-2% of cases. These differ in terms of age of onset, pattern of hyperglycaemia, response to treatment and association with other non-pancreatic effects. They recommend a new disease classification based on the molecular genetic basis as it gives a clearer indication of appropriate treatment:  In the case of diabetes diagnosed before 6 months of age for example, infants with genetic mutations affecting the ATP-sensitive potassium channel respond well to high doses of sulfonylureas such as glibenclamide, rather than insulin.  In familial, young onset diabetes, individuals with the HNF1A or HNF4A mutations need low doses of sulfonylureas. Murphy et al. (2008, p200) state that:

Knowledge of the genetic etiology of diabetes enables more appropriate treatment, better prediction of disease progression, screening of family members and genetic counselling. Nursing implications: Diabetes Specialist Nurses have a role in  Applying their knowledge and understanding of genetics to identifying patients who might have a genetic subtype of the disease.  Helping patients to understand the nature of their diabetes and any implications for other family members.  Supporting patients and carers who may be transferring from insulin to sulfonylureas.  Liaising with specialist diabetes geneticists as appropriate.


Advice from the genetic nurse specialists The Association of Genetic Nurses and Counsellors (AGNC) has a wealth of expertise in the care and support of patients and families with genetic health issues. Members were asked by the authors to identify the key factors that would promote effective integration of genetics/genomics into nursing practice. Their responses highlighted the importance of: • Effective communication with patients and families. • Knowledge of the specialist genetics service, and using it for support. • Developing knowledge and skills around taking and using a family history • Self awareness, especially of the limitations of genetics knowledge and skills. • Professional awareness, in relation to where genetics fits into the practice area, and in appreciating how integrating genetics might improve the patient experience. • Professional approach to practice, in working accurately and ethically. • The working environment, in providing support. Box 5 presents some individual quotes related to these themes. BOX 5: Advice from AGNC members Members of the Association of Genetic Nurses and Counsellors (AGNC) were asked what advice they would offer nurses on how best to integrate genetics/genomics into practice: • Familiarise yourself with how genetics fits into your area of practice and concentrate on this area. • Learn key ‘warning signs’ to look out for within the patient group you are most in contact with. • Don’t assume that all patients consider having a genetic condition in the family to be a problem. • Be aware of ethical issues and family dynamics and don’t assume everyone wants to be tested. • Be honest and do not say to a patient that you understand their result when you don’t and speak to genetic counsellors who are always happy to advise. • Know who your contacts are in the regional genetics service and make use of them. • …never be afraid to pick up the phone and ask for advice.

Real Life Example Achondroplasia is a dominantly inherited condition associated with restricted growth. Most cases arise from a new mutation and so ‘come out of the blue’. Maria tells of her feelings of shock when her son was diagnosed, and talks about the support she received. “… I don’t really remember fully being told what achondroplasia was. We

left the hospital feeling very confused and unsure of what my son’s future held.


I feel the situation could have been handled much better. When you are given such a life changing piece of information there is a lot to take in… It was very fortunate for us that we had a brilliant Health Visitor who gave us all the support she could offer. She helped us find out all that she could, even though she knew as little as we did. She spent much of her own time doing research on the internet about the condition and where to get some special growth charts for my son to record his progress. … There were numerous amounts of calls made by her to our consultant in an effort to get appointments or just to chase things up. She also …made sure that we got referrals to all the right people... We were just made to feel very looked after in spite of the fact that the rest of the system seemed to be failing us. …It felt like somebody was on our side and looking after our best interests.” Think about what Maria needed: • to be helped to understand her son’s diagnosis and the implications for her and her family; • to be given this information at her own pace; • to feel supported during a critical period in her family life. In order to meet Maria’s needs, the health professional involved (in this case the Health Visitor) needed: • to know when and how to make appropriate referrals; • to act as advocate for the patient and family; • to lend support; • to know how to obtain and communicate current, accurate information about genetics; • to recognise the limitations of her expertise. It is clear from Maria’s account that the Health Visitor was able to meet her needs and delivered good quality care. IMPLICATIONS FOR NURSING AND SOCIETY Nurses are well placed to integrate new genetics/genomics knowledge and technologies into practice. They will already have experience and expertise in caring for patients within their specialist area and will have established clinical networks. They will also have an appreciation of patient experiences within their area of care and so may have good insight into how genetic information may impact on this. However, there are challenges this added role dimension could bring: • Time – to acquire new knowledge and skills and to apply them in practice. • Attitude and awareness of the nurse – including confidence and willingness to embrace change. • Maintaining competence - in a rapidly advancing research field.


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Organisational issues - overcoming indifference amongst colleagues, fuelled by lack of awareness of the relevance of genetics/genomics to the healthcare setting. Being clear about how the professional role relates to genetics Genetics itself – a complex subject.

Added to these challenges are the ethical issues raised by genetics/genomics and related technologies. Many of these relate to ownership and use of genetic information or technologies:

Confidentiality

This can become complicated where a family member does not wish to share information that may be of relevance to others in the family. The nurse’s role in upholding confidentiality could become compromised, especially if there is a bearing on reproductive decision-making. Likewise, a genetic test for one individual may reveal the genetic status of another close relative who may not wish to know this.

Discrimination

An individual’s genotype has the potential to indicate the future health of that person. The potential for discrimination based on genotype, with consequent impact on employment or insurance raises concern, although in both the UK and US there is some protection against this happening.

Storage and access to stored DNA

Because DNA can reveal information about the future health of an individual, there are some concerns about its storage and who might access it, particularly where it might be held on national and/or police databases.

Genetic engineering

Use of genetic technologies to manipulate the genome, or to select for or against particular attributes continues to be controversial, especially when used for sex selection or for ‘non medical’ enhancements.

Informed consent

Once a test result is known it cannot be un-known and such genetic information can be life-changing. Informed consent for any genetic intervention is thus essential. In order to support this, nurses need some understanding of the benefits and limitations of genetic testing and screening. Genetic testing and screening of children raises particular concerns and geneticists adhere to a code of practice on this. MANAGING THE EXPECTATIONS OF PATIENTS The real life stories of both Tony and Maria give an indication of what patients and families look for in the care they receive from health professionals. Burke et al. (2007) interviewed 27 people with or at risk of genetic conditions and parents of children affected by a genetic condition. They asked about their experiences of receiving genetic information from healthcare professionals and their views on this. The interviewees felt that there needed to be a greater awareness of genetic aspects of conditions amongst health professionals and that their concerns should be taken seriously. Communications skills were clearly valued, with information being given without judgement, sensitively and at an appropriate pace, recognising that


some genetic information can be hard to understand. The use of terminology was also highlighted. Interviewees want health professionals to recognise that some terms can be confusing or even hurtful. Thus although ‘gene mutation’ is the proper scientific term, when talking to patients and families, terms such as ‘gene alteration’ or ‘gene change’ are preferred. The emotional impact of genetic information can be devastating and can have implications for wider family members. Feelings of guilt and blame may affect parents and grandparents and interviewees want health professionals to be aware of this. In relation to this, it can be difficult to take in (complex) genetic information at a stressful time and so being informed about where and how to access further information in the future was also seen as important. Nowadays, genetics is seldom out of the media spotlight for long. News of gene discoveries and new treatment breakthroughs can be reported with more enthusiasm than accuracy, raising expectations about the availability and scope of genetic tests and overnight cures. Direct to consumer genetic testing is now available via the Internet. Private companies such as deCODE and 23andMe will provide a genetic profile for a large range of conditions and characteristics (Fig 2). Nurses need to be able to evaluate such reports and manage patient expectations accordingly. For this, their own education in genetics/genomics is essential. EDUCATION The knowledge, skills and attitudes in genetics that UK nurses need to support their patients and address their concerns are set out in an education framework around seven competence statements (Kirk et al 2003; Box 6). Competences for US nurses have also been developed (Jenkins and Calzone 2007). The UK education framework is intended to guide pre-registration curricula in particular and forms a platform on which to develop knowledge and skills required by qualified nurses in their chosen field of practice. In relation to this, and to inform the Knowledge and Skills Framework, the NHS National Genetics Education & Development Centre, with Skills for Health, has described nine genetics activities for healthcare staff outside the genetic specialty to support the patient pathway. These were accepted as National Occupational Standards in 2007. Not all of the competences will be applicable to all health professional roles (Fig 3). The NHS National Genetics Education & Development Centre was established in 2004 to support educators and practitioners as they look to integrate genomic healthcare into practice. They work with a network of Genetic Education Facilitators to advise on education and training approaches, and to develop education resources. NURSING LEADERSHIP IN GENOMIC HEALTHCARE Nursing professionals have been notably proactive in leading change in genetics education and practice in healthcare. The International Society of Nurses in Genetics represents nurses from countries all over the world and has been a strong voice in influencing policy. National organisations such as the AGNC have also sought to raise awareness of the contribution that nurses can make in genetic healthcare. The development of competence frameworks by consensus


approaches has provided valuable guidance and efforts continue in developing resources to support these. BOX 6: The UK nursing competences in genetics All nurses, midwives and health visitors, at the point of registration, should be able to: 1. Identify clients who might benefit from genetic services and information  through an understanding of the importance of family history in assessing predisposition to disease,  seeking assistance from and referring to appropriate genetics experts and peer support resources, and  based on an understanding of the components of the current genetic counselling process. 2.

Appreciate the importance of sensitivity in tailoring genetic information and services to clients’ culture, knowledge and language level  recognising that ethnicity, culture, religion and ethical perspectives may influence the clients' ability to utilise these.

3.

Uphold the rights of all clients to informed decision making and voluntary action  based on an awareness of the history of misuse of human genetic information and  understanding of the importance of delivering genetic education and counselling fairly, accurately and without coercion or personal bias,  recognising that personal values and beliefs may influence the care and support provided to clients during decision-making.

4.

Demonstrate a knowledge and understanding of the role of genetic and other factors in maintaining health and in the manifestation, modification and prevention of disease expression, to underpin effective practice.

5.

Demonstrate a knowledge and understanding of the utility and limitations of genetic testing and information  including the ethical, legal and social issues related to testing and recording of genetic information and  the potential physical and/or psychosocial consequences of genetic information for individuals, family members, and communities.

6.

Recognise the limitations of one’s own genetics expertise  based on an understanding of one’s professional role in the referral, provision or follow-up to genetics services.

7.

Obtain and communicate credible, current information about genetics, for self, clients and colleagues  using information technologies effectively to do so.

CONCLUSION The scope and potential of genomic healthcare has major implications for nursing practice and brings its own set of challenges. However, nurses are well placed to integrate these advances into practice for the benefit of their patients, but adequate preparation to ensure they have adequate knowledge, skills and awareness of the possible ethical issues, is essential. REFERENCES Burke S, Bennett C, Bedward J, Farndon P (2007) The experiences and preferences of people receiving genetic information from healthcare professionals. Birmingham: NHS National Genetics Education & Development Centre. Jenkins J, Calzone K (2007) Essential nursing competencies and curricula guidelines for genetics and genomics. Silver Spring MA: American Nurses Association.


Department of Health (2008) Our inheritance, our future. Realising the potential of genetics in the NHS. Progress Review. London: The Stationery Office. House of Lords Science and Technology Committee (2009) Genomic Medicine. Volume 1: Report. London: The Stationery Office Ltd. Kirk M and Tonkin E (2006) Genetics education for nursing professional groups: Survey of practice and needs of UK educators in delivering a genetics competence framework. Birmingham: NHS National Genetics Education & Development Centre. Kirk M, Tonkin E, Birmingham K (2007) Working with publishers: a novel approach to ascertaining practitioners’ needs in genetics education. Journal of Research in Nursing12, 6: 597-615. Kirk M, McDonald K, Longley M, Anstey S (2003) Fit for Practice in the Genetics Era: A competence based education framework for nurses, midwives and health visitors. Pontypridd: University of Glamorgan. NHS National Genetics Education and Development Centre and Skills for Health (2007) Enhancing patient care by integrating genetics in clinical practice: UK Workforce Competences for Genetics in Clinical Practice for Non‐Genetics Healthcare Staff. Birmingham: NHS National Genetics Education and Development Centre http://www.geneticseducation.nhs.uk/develop/downloads/Competence_Framework.pdf Murphy R, Ellard S, Hattersley A (2008) Clinical implications of a molecular genetic classification of monogenic β-cell diabetes. Nature Clinical Practice 4,4: 200-213.


Fig 1 Applying genetics/genomics knowledge and skills in nursing practice

Reflecting on practice

Identifying patients

Core genetics knowledge

Communicating genetic information

Ongoing nursing care


Fig 2 Direct to consumer testing via the Internet

http://www.decodeme.com/ Accessed 19/08/09


Fig 3 Competences in genetics for clinical practice

NHS National Genetics Education and Development Centre and Skills for Health (2007)